The population frequency of Marfan syndrome and the associated cardiac risks in a normal population

Abstract excerpt

<title>Abstract</title> <p>Marfan syndrome is an autosomal dominantly (AD)-inherited disease that results from pathogenic variants in the Fibrillin 1 (<italic>FBN1</italic>) gene, and is characterised by tall stature, elongated limbs and digits, lens abnormalities and aortic root dilatation, aneurysms and dissection but milder forms also occur. Radiological imaging suggests that Marfan syndrome affects between on...

Topics

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• Adrenergic beta-Antagonists
• Aorta
• Aortic Aneurysm
• Fibrillin-1
• Fibrillins
• Marfan Syndrome
• Microfilament Proteins
• Mutation

Identifiers and source

Literature Corpus work

26bb7055-533d-5ab9-9157-9760ce5842bf

DOI

10.21203/rs.3.rs-4975062/v1